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Is spastic ataxia 8 a protein misfolding disorder?

Ferreira-Peralta P, Franca B, Murtinheira F, Rodrigues MS, Herrera F
Biochim Biophys Acta Mol Basis Dis. 2023 Sep 9;1870(1):166882. doi: 10.1016/j.bbadis.2023.166882. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
203712pcDNA3.1 NKX6-2-VenusConstitutive mammaliam expression of human NKX6-2 cDNA fused with the Venus fluorescent protein
203713pcDNA3.1 NKX6-2(1-40)-VenusSPAX8-related truncated mutation (K41*) containing the amino acids 1 to 40 of human NKX6-2, fused with the Venus fluorescent protein.
203714pcDNA3.1 NKX6-2(1-188)-VenusSPAX8-related truncated mutation (E189*) containing the amino acids 1 to 188 of human NKX6-2 fused with the Venus fluorescent protein
203715pcDNA3.1 NKX6-2-Venus S246Ahuman NKX6-2 S246A phosphoresistant mutant
203716pcDNA3.1 NKX6-2-Venus S246Dhuman NKX6-2 S246D phosphomimic mutant
203717pcDNA3.1 NKX6-2-Venus T252Ahuman NKX6-2 T252A phosphoresistant mutant
203718pcDNA3.1 NKX6-2-Venus T252Dhuman NKX6-2 T252D phosphomimic mutant
209178pcDNA3.1 NKX6-2-Venus L163VMammalian expression of SPAX8-related missense mutation (L163V) in human NKX6-2 fused with the Venus fluorescent protein
209179pcDNA3.1 NKX6-2-Venus R200WMammalian expression of SPAX8-related missense mutation (R200W) in human NKX6-2 fused with the Venus fluorescent protein
209180pcDNA3.1 NKX6-2-Venus S246A/T252AMammalian expression of human NKX6-2 T252D phosphoresistant mutant
209181pcDNA3.1 NKX6-2-Venus Y238FMammalian expression of human NKX6-2 T252D phosphoresistant mutant
209182pcDNA3.1 NKX6-2(1-196)-VenusMammalian expression of human NKX6-2 cDNA SPAX8-related truncated mutation containing the amino acids 1 to 196; fused with the green fluorescent protein Venus allowing the use of fluorescent based protocols.

Antibodies from Article